A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272538



Internal ID22126909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195098333..195111910hg38UCSC Ensembl
Outerchr3:194819062..194832639hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219907
Supporting Variants
SamplesHG00512
Known GenesXXYLT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272538
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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